RESUMO
A 13-year-old boy developed cramps and myoglobinuria following exertion. Mitochondrial preparations from a skeletal muscle biopsy were deficient in carnitine palmitoyltransferase (CPT) activity when assayed by the hydroxamate and kinetic assays. The patient's fibroblasts were also deficient when assayed by the hydroxamate and kinetic assays, but not when tested by the DTNB (5,5'-dithiobis-[nitrobenzoic acid]) method. This disparity probably indicates a specific deficiency in fibroblasts of one of the two carnitine palmitoyltransferases, presumably CPT II.
Assuntos
Aciltransferases/deficiência , Carnitina O-Palmitoiltransferase/deficiência , Mitocôndrias Musculares/enzimologia , Adolescente , Células Cultivadas , Fibroblastos/enzimologia , Hemoglobinúria/enzimologia , Humanos , Masculino , Cãibra Muscular/enzimologia , Cãibra Muscular/etiologia , Músculos , Mioglobinúria/etiologiaRESUMO
A middle-aged woman had five discrete episodes of herpes zoster. The first attack consisted of uncomplicated herpes zoster ophthalmicus. The subsequent four episodes involved thoracic, cervical, and finally sacral dermatomes and were complicated by myelitis or encephalomyelitis. During the most recent attack, while she was receiving corticosteroids, varicella-zoster virus was cultured from the CSF. In addition, the patient had strong evidence of systemic lupus erythematosus, with a history of Raynaud's phenomenon, migratory arthralgia, and unexplained anemia before the first attack of zoster with subsequent development of a positive lupus cell preparation and elevated antinuclear antibody levels.